Makhzoom Osama, Kabalan Younes, Al-Quobaili Faizeh
Clinical Biochemistry Department, Faculty of Pharmacy, Damascus University, Damascus, Syria.
Endocrinology Department, Faculty of Medicine, Damascus University, Damascus, Syria.
BMC Med Genet. 2019 Jun 13;20(1):107. doi: 10.1186/s12881-019-0846-3.
Type 2 diabetes mellitus is believed to be a polygenic disorder that develops as a result of a complex interaction between multiple genes and environmental factors. KCNJ11 gene encodes a Kir6.2 protein which forms the inner section of the potassium channels in pancreatic beta cells. Several studies found that KCNJ11 polymorphism increases T2DM risk. Our study aimed to investigate the association between rs5219 polymorphism of the KCNJ11 gene and T2DM in Syrian patients.
This case-control study involved 75 T2DM patients and 63 healthy controls. The KCNJ11 rs5219 polymorphism was genotyped by Restriction Fragment Length Polymorphism (RFLP).
The frequency of the risk allele K was similar between the two groups (38.7% vs. 38.1%, P = 0.132). The frequency of the KK genotype was higher among the patients' group (16% vs. 4.8%), and the frequency of the EK genotype was higher among the control group (45.3% vs. 66.6%); however, the differences were statistically insignificant. The KK genotype was significantly associated with T2DM in the recessive model with an OR of 3.81 (95% CI 1.024-14.17, P = 0.035).
This study showed that rs5219 polymorphism of the KCNJ11 gene is an important risk factor for type 2 diabetes mellitus in a sample of the Syrian population.
2型糖尿病被认为是一种多基因疾病,是由多个基因与环境因素之间复杂的相互作用导致的。KCNJ11基因编码一种Kir6.2蛋白,该蛋白构成胰腺β细胞中钾通道的内部部分。多项研究发现,KCNJ11基因多态性会增加2型糖尿病的风险。我们的研究旨在调查叙利亚患者中KCNJ11基因rs5219多态性与2型糖尿病之间的关联。
这项病例对照研究纳入了75名2型糖尿病患者和63名健康对照。通过限制性片段长度多态性(RFLP)对KCNJ11 rs5219多态性进行基因分型。
两组之间风险等位基因K的频率相似(38.7%对38.1%,P = 0.132)。患者组中KK基因型的频率较高(16%对4.8%),对照组中EK基因型的频率较高(45.3%对66.6%);然而,差异无统计学意义。在隐性模型中,KK基因型与2型糖尿病显著相关,OR为3.81(95%CI 1.024 - 14.17,P = 0.035)。
本研究表明,在叙利亚人群样本中,KCNJ11基因的rs5219多态性是2型糖尿病的一个重要风险因素。